MITOMAP References for RNA Mutation T961delT+/-C(n)ins

• Shoffner, J.M., Brown, M.D., Torroni, A., Lott, M.T., Cabell, M.R., Mirra, S.S., Beal, M.F., Yang, C., Gearing, M., Salvo, R., Watts, R.L., Juncos, J.L., Hansen, L.A., Crain, B.J., Fayad, M., Reckord, C.L., Wallace, D.C. (1993) Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients Genomics . 17 (1): 171-184 .


• Zhao, H., Li, R., Wang, Q., Yan, Q., Deng, J. H., Han, D., Bai, Y., Young, W. Y., Guan, M. X. (2004) Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family American Journal of Human Genetics . 74 (1): 139-152 .


• Bacino, C., Prezant, T. R., Bu, X., Fournier, P., Fischel-Ghodsian, N. (1995) Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness Pharmacogenetics . 5 (3): 165-172 .


• Fischel-Ghodsian, N. (1999) Mitochondrial deafness mutations reviewed Human Mutation . 13 (4): 261-270 .


• Bardien, S., Human, H., Harris, T., Hefke, G., Veikondis, R., Schaaf, H. S., van der Merwe, L., Greinwald, J. H., Fagan, J., de Jong, G. (2009) A rapid method for detection of five known mutations associated with aminoglycoside-induced deafness BMC Medical Genetics . 10 (-): 2 .


• Pulkes, T., Liolitsa, D., Nelson, I. P., Hanna, M. G. (2003) Classical mitochondrial phenotypes without mtDNA mutations: The possible role of nuclear genes Neurology . 61 (8): 1144-1147 .


• Casano, R. A., Johnson, D. F., Bykhovskaya, Y., Torricelli, F., Bigozzi, M., Fischel-Ghodsian, N. (1999) Inherited susceptibility to aminoglycoside ototoxicity: genetic heterogeneity and clinical implications American Journal of Otolaryngology . 20 (3): 151-156 .


• Bacino, C., Prezant, T. R., Bu, X., Fournier, P., Fischel-Ghodsian, N. (1995) Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness Pharmacogenetics . 5 (3): 165-172 .


• Yoshida, M., Shintani, T., Hirao, M., Himi, T., Yamaguchi, A., Kikuchi, K. (2002) Aminoglycoside-induced hearing loss in a patient with the 961 mutation in mitochondrial DNA ORL; Journal for Oto-Rhino-Laryngology and its Related Specialties . 64 (3): 219-222 .


• Tang, H. Y., Hutcheson, E., Neill, S., Drummond-Borg, M., Speer, M., Alford, R. L. (2002) Genetic susceptibility to aminoglycoside ototoxicity: how many are at risk? Genetics in Medicine . 4 (5): 336-345 .


• Ito, M., Tran Le, S., Chaudhari, D., Higashimoto, T., Maslim, A., Boles, R. G. (2001) Screening for mitochondrial DNA heteroplasmy in children at risk for mitochondrial disease Mitochondrion . 1 (3): 269-278 .


• Konings, A., Van Camp, G., Goethals, A., Van Eyken, E., Vandevelde, A., Ben Azza, J., Peeters, N., Wuyts, W., Smeets, H., Van Laer, L. (2008) Mutation analysis of mitochondrial DNA 12SrRNA and tRNASer(UCN) genes in non-syndromic hearing loss patients Mitochondrion . 8 (40669): 377-382 .


• Tanaka, N., Goto, Y. I., Akanuma, J., Kato, M., Kinoshita, T., Yamashita, F., Tanaka, M., Asada, T. (2010) Mitochondrial DNA variants in a Japanese population of patients with Alzheimer's disease Mitochondrion . 10 (1): 32-37 .


• Kobayashi, K., Oguchi, T., Asamura, K., Miyagawa, M., Horai, S., Abe, S., Usami, S. (2005) Genetic features, clinical phenotypes, and prevalence of sensorineural hearing loss associated with the 961delT mitochondrial mutation Auris, Nasus, Larynx . 32 (2): 119-124 .


• Elstner, M., Schmidt, C., Zingler, V. C., Prokisch, H., Bettecken, T., Elson, J. L., Rudolph, G., Bender, A., Halmagyi, G. M., Brandt, T., Strupp, M., Klopstock, T. (2008) Mitochondrial 12S rRNA susceptibility mutations in aminoglycoside-associated and idiopathic bilateral vestibulopathy Biochemical and Biophysical Research Communications . 377 (2): 379-383 .


• Lu, J., Li, Z., Zhu, Y., Yang, A., Li, R., Zheng, J., Cai, Q., Peng, G., Zheng, W., Tang, X., Chen, B., Chen, J., Liao, Z., Yang, L., Li, Y., You, J., Ding, Y., Yu, H., Wang, J., Sun, D., Zhao, J., Xue, L., Wang, J., Guan, M. X. (2010) Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss Mitochondrion . 10 (4): 380-390 .


• Ealy, M., Lynch, K. A., Meyer, N. C., Smith, R. J. (2011) The prevalence of mitochondrial mutations associated with aminoglycoside-induced sensorineural hearing loss in an NICU population Laryngoscope . 121 (6): 1184-1186 .